Canonical Allele Identifier: CA404877717
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784898T>G , CM000681.2:g.18784898T>G GRCh38
NC_000019.9:g.18895708T>G , CM000681.1:g.18895708T>G GRCh37
NC_000019.8:g.18756708T>G NCBI36
NG_007070.1:g.11407A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1912A>C MANE Select ENSP00000222271.2:p.Lys638Gln
ENST00000222271.6:c.1912A>C ENSP00000222271.2:p.Lys638Gln
ENST00000425807.1:c.1753A>C ENSP00000403792.1:p.Lys585Gln
ENST00000542601.6:c.1813A>C ENSP00000439156.2:p.Lys605Gln
NM_000095.2:c.1912A>C NP_000086.2:p.Lys638Gln
NM_000095.3:c.1912A>C MANE Select NP_000086.2:p.Lys638Gln